Hurler-Scheies sykdom

Engelsk navn: Hurler-Scheie syndrome
Engelske synonym: MPS1H/S,MPSIH/S,Mucopolysaccharidosis type 1H/S,Mucopolysaccharidosis type IH/S

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.